Results 31 to 40 of about 8,250 (205)

Differential expression of GJB2 in pancreatic cancer.

, 2023
Cancer is a leading cause of death and pancreatic cancer is among the most lethal cancers (1, 2). We mined published microarray datasets (3, 4) to determine in an unbiased fashion and at the level of the transcriptome genes most differentially ...
Shahan Mamoor
core   +1 more source

Intercellular cross-talk through lineage-specific gap junction of cancer-associated fibroblasts related to stromal fibrosis and prognosis

Scientific Reports, 2023
Stromal fibrosis in cancer is usually associated with poor prognosis and chemotherapy resistance. It is thought to be caused by fibroblasts; however, the exact mechanism is not yet well understood.
Seong Ju Cho, Ji-Hye Oh, Jaehoon Baek, Yunsu Shin, Wonkyung Kim, Junsu Ko, Eunsung Jun, Dakeun Lee, Seok-Hyung Kim, Insuk Sohn, Chang Ohk Sung   +10 more
doaj   +1 more source

Significance of connexion genes in non-syndromic deafness in Africans [PDF]

, 2013
Includes abstract.
Bosch, Jason
core   +1 more source

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study [PDF]

The American Journal of Human Genetics, 2005
Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss ...
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller Malesinska M, Pollak A, Ploski R, MURGIA, ALESSANDRA, Orzan E, Castorina P, Ambrosetti U, Nowakowska Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, MARTINI, ALESSANDRO, Lina Granade G, Pallares Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G.   +63 more
openaire   +7 more sources

GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal

Biology, 2022
This study aimed to investigate GJB2 (MIM: 121011) and GJB6 (MIM: 604418) variants associated with familial non-syndromic hearing impairment (HI) in Senegal.
Yacouba Dia, Samuel Mawuli Adadey, Jean Pascal Demba Diop, Elvis Twumasi Aboagye, Seydi Abdoul Ba, Carmen De Kock, Cheikh Ahmed Tidjane Ly, Oluwafemi Gabriel Oluwale, Andrea Regina Gnilane Sène, Pierre Diaga Sarr, Bay Karim Diallo, Rokhaya Ndiaye Diallo, Ambroise Wonkam   +12 more
doaj   +1 more source

Primers for GJB2:c.35DelG screening (ARMS PCR).

, 2023
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a public health concern in the Iranian population, with an incidence of 1 in 166 live births.
Halimeh Rezaei (16814657), Arezu Kazemi (16814654), Sadeq Vallian (16814660), Jalal Vallian Broojeni (16814651)   +3 more
core   +1 more source

Mutation analysis of the GJB2 (Connexin 26) gene in Egypt [PDF]

Human Mutation, 2005
Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26. Among Caucasians, the c.35delG mutation in this gene accounts for up to 30 to 70% of all cases with early childhood deafness. In this study, we present the analysis of the GJB2 gene in 159 Egyptians from 111 families with non-syndromic ...
Snoeckx, Rikkert L., Hassan, Dalia M., Kamal, Nadia M., van den Bogaert, Kris, Van Camp, Guy   +4 more
openaire   +3 more sources

Genetic contribution of GJB2 gene to hearing impairment in Pakistan [PDF]

, 2019
Background: Hearing impairment (HI) is defined as inability to hear and is an extremely heterogeneous genetic disorder. HI is divided into syndromic (if associated with clinical manifestation in addition to hearing impairment) and non-syndromic forms. So
Zaigham, Kalsoom, Tariq, Hamna, Kousar, Samra, Azhar, Aysha   +3 more
core   +1 more source

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants

, 2023
The GJB2 gene is the most common gene responsible for hearing loss (HL) worldwide, and missense variants are the most abundant type. GJB2 pathogenic missense variants cause nonsyndromic HL (autosomal recessive and dominant) and syndromic HL combined with
Hongen Xu, Lei An, Lu Mao, Dmitrij Frishman, Yueqiang Wang, Yanyan Wang, Mengli Liu, Wenxue Tang, Beiping Zeng, Yanyu Chen   +9 more
core   +1 more source

Mitochondrial Localization of Cx26 Promotes Colorectal Cancer Malignancy and Exposes a Fatal Vulnerability to Drug Targeting

Advanced Science, EarlyView.
Mitochondrial localization of Cx26 emerges as a double‐edged sword in colorectal cancer. PIMT‐mediated methylation of Cx26 promotes its mitochondrial localization and stability. Mitochondrial Cx26 then facilitates ER‐mitochondria communication and Ca2+ signaling, thereby promoting metastatic progression. Bortezomib exploits this malignant adaptation by
Jie Wang, Lu Chen, Jia Qin, Xiaoning Wang, Sunlan Ye, Ning An, Mei Bai, Yan Shen, Xuefeng Wu, Qiang Xu   +9 more
wiley   +1 more source